Contributions
Abstract: PB2296
Type: Publication Only
Background
In childhood age, sporadic essential thrombocytosis is a very rare disease and its frequency has been reported as 1 / 1,000,000. WHO 2008 Essential Thrombocytosis Diagnostic Criteria; (iron deficiency, megaloblastic anemia, acute phase reactors, trauma, operation), absence of myeloproliferative neoplasm and thrombocytosis in the family, and the presence of thrombocytosis in WHO the absence of myeloid neoplasm criteria.
Aims
Seven cases of sporadic essential thrombocytosis diagnosed in our Pediatric Hematology Clinic were presented in this study.
Methods
Six of the patients are girls, one is a boy. Median referral age was 13 years (minimum 5 months, maximum 15 years). Application complaints; adolescent boys were found incidentally, with headache, dizziness, and tinnitus while young children had no complaints. No thrombus was detected in any patient. The median platelet count was 1442 X109 / L (963 lowest, 2438 highest).
Results
There was an increase in megakaryocytes in bone marrow aspiration, no cytogenetic abnormality. In one case Jak-2 (V617F) mutation, in two cases CALR mutation was detected. There was no mutation of MPL (W515L) in any case. One type 2 mutation known to one of the CALR mutation cases, and a new mutation that was not previously defined. No clonality was detected in the other four cases.
Three cases of mutation detection and two cases of undetectable disease are followed by hydroxyurea treatment. Two other cases use low-dose aspirin. Follow-up is between six months and nine years. No complications developed.
Conclusion
Thrombocytosis is a common problem in childhood age group. Generally, reactive and secondary causes are detected. Essential thrombocytosis is a diagnosis that should come to our mind after other causes have been ruled out. Mutation studies should be carried out in children with WHO 2008 criteria. In adults, Jak-2 (V617F), CALR and MPL (W515L) mutations occur in 90% of cases, whereas in childhood, these three mutations occur only in 25% of cases. The high number of cases in which no mutation is detected indicates that new candidate genes must be searched and studied.
Session topic: 16. Myeloproliferative neoplasms - Clinical
Keyword(s): Children, Essential Thrombocytemia
Abstract: PB2296
Type: Publication Only
Background
In childhood age, sporadic essential thrombocytosis is a very rare disease and its frequency has been reported as 1 / 1,000,000. WHO 2008 Essential Thrombocytosis Diagnostic Criteria; (iron deficiency, megaloblastic anemia, acute phase reactors, trauma, operation), absence of myeloproliferative neoplasm and thrombocytosis in the family, and the presence of thrombocytosis in WHO the absence of myeloid neoplasm criteria.
Aims
Seven cases of sporadic essential thrombocytosis diagnosed in our Pediatric Hematology Clinic were presented in this study.
Methods
Six of the patients are girls, one is a boy. Median referral age was 13 years (minimum 5 months, maximum 15 years). Application complaints; adolescent boys were found incidentally, with headache, dizziness, and tinnitus while young children had no complaints. No thrombus was detected in any patient. The median platelet count was 1442 X109 / L (963 lowest, 2438 highest).
Results
There was an increase in megakaryocytes in bone marrow aspiration, no cytogenetic abnormality. In one case Jak-2 (V617F) mutation, in two cases CALR mutation was detected. There was no mutation of MPL (W515L) in any case. One type 2 mutation known to one of the CALR mutation cases, and a new mutation that was not previously defined. No clonality was detected in the other four cases.
Three cases of mutation detection and two cases of undetectable disease are followed by hydroxyurea treatment. Two other cases use low-dose aspirin. Follow-up is between six months and nine years. No complications developed.
Conclusion
Thrombocytosis is a common problem in childhood age group. Generally, reactive and secondary causes are detected. Essential thrombocytosis is a diagnosis that should come to our mind after other causes have been ruled out. Mutation studies should be carried out in children with WHO 2008 criteria. In adults, Jak-2 (V617F), CALR and MPL (W515L) mutations occur in 90% of cases, whereas in childhood, these three mutations occur only in 25% of cases. The high number of cases in which no mutation is detected indicates that new candidate genes must be searched and studied.
Session topic: 16. Myeloproliferative neoplasms - Clinical
Keyword(s): Children, Essential Thrombocytemia